A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334762



Internal ID20867950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13330001..13384000hg38UCSC Ensembl
chr1:13656407..13710460hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3854000
hg1954054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200097
Samples
Known GenesPRAMEF18, PRAMEF19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334762
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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